H119Q (p.His119Gln) variant of ETV4 (ETS translocation variant 4)
H119Q (p.His119Gln) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
H119Q (p.His119Gln) variant details
- p.His119Gln
- TOPMed rs1044858288
- gnomAD rs1044858288
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.08
- CADD 19.30
- PolyPhen-2 0.18
- SIFT 0.69
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)